G19D (p.Gly19Asp) variant of POT1 (Q9NUX5)
G19D (p.Gly19Asp) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- rs1334143931
- ClinGen CA369066163
- ClinVar RCV002292054
- ClinVar RCV003097804
- Uncertain significance
- Tumor predisposition syndrome 3; Hereditary cancer-predisposing syndrome; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.04
- CADD 8.02
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Tumor predisposition syndrome 3; Hereditary cancer-predisposing)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)